Table 5.

Reported incidental findings.

IF category	Diagnostic techniques implemented	Incidental finding	Consequence
Variant(s) matching inheritance pattern of the actionable disease	OMOM	P COL6A3, AD/AR, c.6354+2T>C, de novo	(Ulrich congenital) muscular myopathy/Bethlehem myopathy
	OMOM	*LP MYH7, AD, c.5326A>G, p.(Ser1776Gly), pat	Hypertrophic cardiomyopathy
	OMOM	*P PCSK9, AD, c.1394C>T p.(Ser465Leu), mat	Hypercholesterolemia
	SNP	15q11.2(22766393_23272175)x1, mat	15q11.2 microdeletion syndrome
	SNP	17q12(34652993_36428544)x3, de novo	17q12 microduplication syndrome;
	SNP	(X)x2, (Y)x1, de novo	Klinefelter syndrome

SNP, Single nucleotide polymorphism array; OMOM, OMIM morbid gene panel sequencing; mat, maternal; pat, paternal; P, pathogenic; LP, likely pathogenic; AD, autosomal dominant; AR, autosomal recessive;

^(*), actionable according to ACMG (8).